Varaico: Literature-Extracted Genetic Variants

LDLR

2,667 papers

RefSeq Summary

The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the ce...

Pfam Domains

Ldl_recept_aaa 25–63UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 66–104UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 107–143UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 146–184UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 195–231UCSCLow-density lipoprotein receptor domain class A

Ldl_recept_aaa 234–270UCSCLow-density lipoprotein receptor domain class A

Gene Aliases

HGNC Name

low density lipoprotein receptor

HGNC Alias Symbol

LDLCQ2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000527.5

p.E228A

c.683A>C

Surrounding Variants

1 paper

NM_000527.5

p.E228G

c.683A>G

3 papers

NM_000527.5

p.E229delFs

c.685delG

82 papers

NM_000527.5

p.E228K

c.682G>A

1 paper

NM_000527.5

p.E228E

c.684G>A

29 papers

NM_000527.5

p.E228Q

c.682G>C

6 papers

NM_000527.5

p.E228D

c.684G>C

1 paper

NM_000527.5

p.E228_E229insFs

c.684_685insA

1 paper

NM_000527.5

p.E228ins3

c.682_683ins9

69 papers

NM_000527.5

p.E228*

c.682G>T

6 papers

NM_000527.5

p.E228D

c.684G>T

1 paper

NM_000527.5

p.E228delins

c.682delinsTGCA

3 papers

NM_000527.5

p.E228fs

c.682_683fs